Authors
Nilufer Rahmioglu, Stuart Macgregor, Alexander W Drong, Åsa K Hedman, Holly R Harris, Joshua C Randall, Inga Prokopenko, International Endogene Consortium (IEC), The GIANT Consortium, Dale R Nyholt, Andrew P Morris, Grant W Montgomery, Stacey A Missmer, Cecilia M Lindgren, Krina T Zondervan
Publication date
2015/2/15
Journal
Human molecular genetics
Volume
24
Issue
4
Pages
1185-1199
Publisher
Oxford University Press
Description
Endometriosis is a chronic inflammatory condition in women that results in pelvic pain and subfertility, and has been associated with decreased body mass index (BMI). Genetic variants contributing to the heritable component have started to emerge from genome-wide association studies (GWAS), although the majority remain unknown. Unexpectedly, we observed an intergenic locus on 7p15.2 that was genome-wide significantly associated with both endometriosis and fat distribution (waist-to-hip ratio adjusted for BMI; WHRadjBMI) in an independent meta-GWAS of European ancestry individuals. This led us to investigate the potential overlap in genetic variants underlying the aetiology of endometriosis, WHRadjBMI and BMI using GWAS data. Our analyses demonstrated significant enrichment of common variants between fat distribution and endometriosis (P = 3.7 × 10−3), which was stronger when we …
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